Serial Changes of Cerebral Glucose Metabolism and Caudate Size in Persons at Risk for Huntington's Disease

Grafton, Scott T.; Mazziotta, John C.; Pahl, Jörg J.; George-Hyslop, Peter St; Haines, Jonathan L.; Gusella, James F.; Hoffman, John M.; Baxter, Lewis R.; Phelps, Michael E.

doi:10.1001/archneur.1992.00530350075022

Cited by 150 publications

(78 citation statements)

References 36 publications

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“…Even though striatal atrophy has been detected and reported by many investigators (3,(25)(26)(27)(28)(29), neuronal degeneration also occurs in other areas of the brain such as the cerebral and cerebellar cortex (4,5), amygdala, hippocampus, and brainstem (6), supporting the concept that HD is a multisystem disorder. In agreement with this concept, subcortical gray matter loss in the thalamus, substantia nigra, and anterior basomedial diencephalic region has been described, but in later stages of the disease (5).…”

Section: Discussionmentioning

confidence: 92%

Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat

Ruocco

Lopes‐Cendes

et al. 2006

Braz J Med Biol Res

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Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported. The objective of the present study was to perform MRI measurements of caudate, putamen, cerebral, and cerebellar volumes and correlate these findings with the length of the CAG repeat and clinical parameters. We evaluated 50 consecutive patients with HD using MRI volumetric measurements and compared them to normal controls. Age at onset of the disease ranged from 4 to 73 years (mean: 43.1 years). The length of the CAG repeat ranged from 40 to 69 (mean: 47.2 CAG). HD patients presented marked atrophy of the caudate and putamen, as well as reduced cerebellar and cerebral volumes. There was a significant correlation between age at onset of HD and length of the CAG repeat, as well as clinical disability and age at onset. The degree of basal ganglia atrophy correlated with the length of the CAG repeat. There was no correlation between cerebellar or cerebral volume and length of the CAG repeat. However, there was a tendency to a positive correlation between duration of disease and cerebellar atrophy. While there was a negative correlation of length of the CAG repeat with age at disease onset and with striatal degeneration, its influence on extrastriatal atrophy, including the cerebellum, was not clear. Extrastriatal atrophy occurs later in HD and may be related to disease duration.

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Section: Discussionmentioning

confidence: 92%

Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat

Ruocco

Lopes‐Cendes

et al. 2006

Braz J Med Biol Res

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“…Many studies showing early defects in cortical and striatal glucose metabolism [93,95] have driven the search for sensitive brain markers (dry biomarkers) that might be measured before HD becomes manifest, thereby making it possible to predict how quickly overt symptoms are likely to appear in at-risk mutation carriers. Research models to date attempting to predict the age at onset in unaffected mutation carriers have merely sought to relate CAG expansion size to subject age [96].…”

Section: Movement Disordersmentioning

confidence: 99%

Multiagent imaging of the brain

Ciarmiello

Gaeta

Guidotti

et al. 2013

Clin Transl Imaging

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Positron emission tomography (PET) and single-photon emission computed tomography (SPECT) are in vivo imaging techniques that, using a wide range of tracers, allow the non-invasive tracking of pathophysiological processes in healthy and diseased brain. One of most promising of the various PET and SPECT applications is the investigation of pathophysiological aspects of neurodegenerative disorders. This is an extremely important area of investigation given the aging of the global population and the high prevalence of brain disorders such as Alzheimer's disease and Parkinson's disease in elderly persons. Clinical translation of advances in molecular imaging research into clinical practice may, by overcoming the limitations of a diagnostic approach that relies exclusively on clinical judgment and structural imaging, lead to better clinical management of affected patients.

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“…HD is caused by a dominantly inherited CAG repeat expansion mutation that generates lengthening of the protein huntingtin, with size-dependent neurotoxicity. Several PET studies have shown hypometabolism in the caudate nucleus, both in symptomatic and asymptomatic mutation carriers (Grafton, et al 1992) (Antonini A., et al 1996) In asymptomatic carriers, metabolic decreases were also significantly associated with the CAG repeat number (Antonini A., et al 1996). Furthermore, it was found that FDG uptake in the caudate nucleus provided a predictive measure for time of onset of the disease, in addition to the mutation size (Ciarmiello A., et al 2012).…”

Section: Huntington's Diseasementioning

confidence: 99%